Incidental Mutation 'R7044:Hjv'
ID 547200
Institutional Source Beutler Lab
Gene Symbol Hjv
Ensembl Gene ENSMUSG00000038403
Gene Name hemojuvelin BMP co-receptor
Synonyms Rgmc, 2310035L15Rik, DL-M, HJV, hemojuvelin, Hfe2, 5230400G09Rik
MMRRC Submission 045143-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7044 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 96432488-96436526 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 96434790 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 176 (H176Q)
Ref Sequence ENSEMBL: ENSMUSP00000046659 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049208]
AlphaFold Q7TQ32
Predicted Effect possibly damaging
Transcript: ENSMUST00000049208
AA Change: H176Q

PolyPhen 2 Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000046659
Gene: ENSMUSG00000038403
AA Change: H176Q

signal peptide 1 32 N/A INTRINSIC
Pfam:RGM_N 34 219 6.2e-61 PFAM
Pfam:RGM_C 223 389 4.7e-59 PFAM
transmembrane domain 397 419 N/A INTRINSIC
Meta Mutation Damage Score 0.0787 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 98% (40/41)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene is involved in iron metabolism. It may be a component of the signaling pathway which activates hepcidin or it may act as a modulator of hepcidin expression. It could also represent the cellular receptor for hepcidin. Two uORFs in the 5' UTR negatively regulate the expression and activity of the encoded protein. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. Defects in this gene are the cause of hemochromatosis type 2A, also called juvenile hemochromatosis (JH). JH is an early-onset autosomal recessive disorder due to severe iron overload resulting in hypogonadotrophic hypogonadism, hepatic fibrosis or cirrhosis and cardiomyopathy, occurring typically before age of 30. [provided by RefSeq, Oct 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit lack of hepcidin expression, severe iron overload and male sterility. Mice homozygous for a different knock-out allele display systemic iron overload, a severe deficit in hepcidin production, overexpression of ferroportin but normal male fertility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd6 T A 4: 32,815,260 (GRCm39) Q448L possibly damaging Het
Appl1 A G 14: 26,650,634 (GRCm39) S513P possibly damaging Het
Cdhr2 A T 13: 54,881,134 (GRCm39) K1066* probably null Het
Ckap5 T C 2: 91,407,946 (GRCm39) I824T probably benign Het
Cracdl C T 1: 37,651,361 (GRCm39) D1169N possibly damaging Het
Ctbp2 T C 7: 132,616,831 (GRCm39) R35G possibly damaging Het
Dcdc2c T C 12: 28,520,493 (GRCm39) probably benign Het
Eya1 T A 1: 14,301,634 (GRCm39) probably null Het
Fat4 G C 3: 39,064,959 (GRCm39) A4972P probably benign Het
Fat4 C T 3: 39,064,960 (GRCm39) A4972V probably benign Het
Fbxl8 T A 8: 105,993,647 (GRCm39) M1K probably null Het
Glyat T C 19: 12,627,629 (GRCm39) S75P probably benign Het
Gm3543 T A 14: 41,802,023 (GRCm39) I154F probably damaging Het
Gm4565 T A 7: 22,282,795 (GRCm39) M8L probably benign Het
Gpr179 T C 11: 97,240,616 (GRCm39) Q269R probably benign Het
Ikzf2 T C 1: 69,578,060 (GRCm39) H483R possibly damaging Het
Il25 G A 14: 55,170,615 (GRCm39) A63T probably benign Het
Krt27 T A 11: 99,237,640 (GRCm39) N366I probably benign Het
Mfge8 A G 7: 78,792,268 (GRCm39) V219A probably benign Het
Nrbp1 T C 5: 31,407,290 (GRCm39) V373A probably damaging Het
Or4c100 A G 2: 88,356,830 (GRCm39) N301S probably benign Het
Otulinl A G 15: 27,657,321 (GRCm39) probably benign Het
Pcdh20 A G 14: 88,706,607 (GRCm39) I231T probably damaging Het
Pfkp A G 13: 6,631,603 (GRCm39) W151R probably damaging Het
Pikfyve T C 1: 65,286,013 (GRCm39) I1084T probably benign Het
Poteg T C 8: 27,939,923 (GRCm39) C27R probably damaging Het
Ptprz1 G A 6: 23,044,345 (GRCm39) V1266M probably damaging Het
Rpa1 T C 11: 75,203,628 (GRCm39) D358G probably damaging Het
Slx9 T C 10: 77,350,226 (GRCm39) D35G possibly damaging Het
Snapc4 A G 2: 26,259,965 (GRCm39) S495P probably damaging Het
Surf6 A G 2: 26,789,368 (GRCm39) I123T probably damaging Het
Sybu A T 15: 44,541,091 (GRCm39) S324T possibly damaging Het
Trim3 A T 7: 105,267,421 (GRCm39) S319R probably damaging Het
Trmt11 A G 10: 30,466,930 (GRCm39) F72L probably benign Het
Tsks C T 7: 44,593,216 (GRCm39) R61W probably damaging Het
Ube2k T C 5: 65,738,772 (GRCm39) V36A possibly damaging Het
Ube3a T C 7: 58,938,161 (GRCm39) V688A probably damaging Het
Vegfc A G 8: 54,610,080 (GRCm39) K79E possibly damaging Het
Vmn1r77 G A 7: 11,775,761 (GRCm39) R179Q probably benign Het
Vmn2r97 T A 17: 19,134,629 (GRCm39) F16I probably benign Het
Zfp451 A T 1: 33,841,248 (GRCm39) probably benign Het
Zfp600 C T 4: 146,131,892 (GRCm39) Q187* probably null Het
Other mutations in Hjv
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01671:Hjv APN 3 96,435,807 (GRCm39) missense probably damaging 1.00
IGL02342:Hjv APN 3 96,435,488 (GRCm39) missense possibly damaging 0.78
IGL03083:Hjv APN 3 96,435,922 (GRCm39) missense probably benign 0.41
PIT4354001:Hjv UTSW 3 96,435,761 (GRCm39) missense probably damaging 1.00
PIT4504001:Hjv UTSW 3 96,435,813 (GRCm39) missense probably damaging 1.00
R4602:Hjv UTSW 3 96,434,869 (GRCm39) missense probably benign 0.02
R5475:Hjv UTSW 3 96,434,599 (GRCm39) missense probably benign 0.19
R5761:Hjv UTSW 3 96,435,938 (GRCm39) missense probably benign 0.00
R7117:Hjv UTSW 3 96,435,542 (GRCm39) missense possibly damaging 0.95
R7206:Hjv UTSW 3 96,435,444 (GRCm39) missense probably damaging 1.00
R8934:Hjv UTSW 3 96,433,909 (GRCm39) missense probably damaging 1.00
R9177:Hjv UTSW 3 96,435,881 (GRCm39) missense probably benign 0.33
R9253:Hjv UTSW 3 96,435,710 (GRCm39) missense probably benign 0.00
R9260:Hjv UTSW 3 96,435,579 (GRCm39) missense probably damaging 0.96
R9268:Hjv UTSW 3 96,435,881 (GRCm39) missense probably benign 0.33
Z1177:Hjv UTSW 3 96,435,403 (GRCm39) missense probably benign 0.12
Z1177:Hjv UTSW 3 96,434,513 (GRCm39) missense possibly damaging 0.88
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2019-05-13